H68R (p.His68Arg) variant of VKORC1 (Q9BQB6)
H68R (p.His68Arg) in VKORC1 (Q9BQB6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Vitamin K-dependent clotting factors, combined deficiency of, type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
H68R (p.His68Arg) variant details
- p.His68Arg
- rs201044348
- ClinGen CA8021194
- cosmic curated COSV54927
- ClinVar RCV001120429
- Benign
- Vitamin K-dependent clotting factors, combined deficiency of, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.33
- CADD 12.50
- PolyPhen-2 0.09
- SIFT 0.40
- ClinVar: Benign (Vitamin K-dependent clotting factors, combined deficiency of, ty)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available